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Karel Liem, MD, PhD

Associate Professor of Pediatrics (Critical Care Medicine)

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Karel Liem, MD, PhD

Research Summary

The Liem lab studies mutations that affect the development of the mammalian embryo. The lab uses forward genetics and other approaches in the mouse to identify novel genes and signaling pathways that are required for sculpting the body plan and for proper organ development. The lab is especially interested in mutations that cause developmental defects of the central nervous system and in mutations that affect the development of cilia, microtubule-based organelles on the surface of most cells. Current projects include (1) the role of cilia in molecular signaling in Polycystic Kidney Disease and other “Ciliopathies” (2) the cellular and molecular basis of “Tubulinopathies” including the neurodegenerative disorder H-ABC.


Research Interests

Congenital Abnormalities; Ciliary Motility Disorders; Demyelinating Diseases; Embryonic Structures; Kidney Diseases; Nervous System Malformations; Nervous System Diseases; Neurodegenerative Diseases; Heterotaxy Syndrome

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Selected Publications